Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529051C= , CM000681.2:g.7529051C= | GRCh38 |
| NC_000019.9:g.7593937C= , CM000681.1:g.7593937C= | GRCh37 |
| NC_000019.8:g.7499937C= | NCBI36 |
| NG_015806.1:g.11442C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1135-50C= MANE Select | ENSP00000264079.5:n.1135-50C= | |
| ENST00000264079.10:c.1135-50C= | ENSP00000264079.5:n.1135-50C= | |
| ENST00000394321.9:n.1450-50C= | ||
| ENST00000594692.1:n.81C= | ||
| ENST00000595860.5:n.318-50C= | ||
| ENST00000599334.1:c.12-50C= | ||
| NM_020533.2:c.1135-50C= | NP_065394.1:n.1135-50C= | |
| NM_020533.3:c.1135-50C= MANE Select | NP_065394.1:n.1135-50C= |